Linked Data
ClinVar Variation Id:
468822
dbSNP Id:
rs1554816691
gnomAD v4:
10-74071042-C-T
COSMIC:
COSM4495670
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74071042C>T , CM000672.2:g.74071042C>T | GRCh38 |
| NC_000010.10:g.75830800C>T , CM000672.1:g.75830800C>T | GRCh37 |
| NC_000010.9:g.75500806C>T | NCBI36 |
| NG_008868.1:g.77929C>T , LRG_383:g.77929C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000211998.10:c.458C>T MANE Select | ENSP00000211998.5:p.Thr153Ile | |
| ENST00000211998.8:c.458C>T | ENSP00000211998.4:p.Thr153Ile | |
| ENST00000372755.7:c.458C>T | ENSP00000361841.3:p.Thr153Ile | |
| ENST00000478896.2:n.331+27889C>T | ||
| ENST00000623461.3:n.416C>T | ||
| ENST00000624354.3:c.*213C>T | ENSP00000485551.1:n.*213C>T | |
| NM_003373.3:c.458C>T | NP_003364.1:p.Thr153Ile | |
| NM_014000.2:c.458C>T , LRG_383t1:c.458C>T | NP_054706.1:p.Thr153Ile | |
| XM_005270142.1:c.458C>T | XP_005270199.1:p.Thr153Ile | |
| XM_005270143.1:c.458C>T | XP_005270200.1:p.Thr153Ile | |
| NM_003373.4:c.458C>T | NP_003364.1:p.Thr153Ile | |
| NM_014000.3:c.458C>T MANE Select | NP_054706.1:p.Thr153Ile |